SMABF1
MCID: SPN400
MIFTS: 23

Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures (SMABF1)

Categories: Bone diseases, Genetic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

MalaCards integrated aliases for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures:

Name: Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures 57
Spinal Muscular Atrophy with Congenital Bone Fractures 1 57 74 29 6
Spinal Muscular Atrophy Type 1 with Congenital Bone Fractures 53 29
Smabf1 57 74
Atrophy, Muscular, Spinal, with Congenital Bone Fractures, Type 1 40
Sma1 with Congenital Bone Fractures 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
spinal muscular atrophy, type i, with congenital bone fractures:
Inheritance autosomal recessive inheritance

spinal muscular atrophy with congenital bone fractures 1:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

MeSH 44 D009134

Summaries for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

UniProtKB/Swiss-Prot : 74 Spinal muscular atrophy with congenital bone fractures 1: An autosomal recessive neuromuscular disorder characterized by prenatal-onset spinal muscular atrophy, multiple congenital contractures consistent with arthrogryposis multiplex congenita, respiratory distress, and congenital bone fractures.

MalaCards based summary : Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures, is also known as spinal muscular atrophy with congenital bone fractures 1. An important gene associated with Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures is TRIP4 (Thyroid Hormone Receptor Interactor 4). Affiliated tissues include bone and heart, and related phenotypes are hypertelorism and high palate

More information from OMIM: 271225 616866 PS616866

Related Diseases for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Symptoms & Phenotypes for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Human phenotypes related to Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures:

32 (show all 43)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 very rare (1%) HP:0000316
2 high palate 32 very rare (1%) HP:0000218
3 muscle weakness 32 very rare (1%) HP:0001324
4 dysphagia 32 very rare (1%) HP:0002015
5 global developmental delay 32 very rare (1%) HP:0001263
6 areflexia 32 very rare (1%) HP:0001284
7 patent ductus arteriosus 32 very rare (1%) HP:0001643
8 congestive heart failure 32 very rare (1%) HP:0001635
9 narrow mouth 32 very rare (1%) HP:0000160
10 hypohidrosis 32 very rare (1%) HP:0000966
11 cardiomyopathy 32 very rare (1%) HP:0001638
12 arthrogryposis multiplex congenita 32 very rare (1%) HP:0002804
13 neonatal respiratory distress 32 very rare (1%) HP:0002643
14 decreased fetal movement 32 very rare (1%) HP:0001558
15 oligohydramnios 32 very rare (1%) HP:0001562
16 microretrognathia 32 very rare (1%) HP:0000308
17 premature birth 32 very rare (1%) HP:0001622
18 severe muscular hypotonia 32 very rare (1%) HP:0006829
19 muscle fiber atrophy 32 very rare (1%) HP:0100295
20 multiple prenatal fractures 32 very rare (1%) HP:0005855
21 pulmonary hypoplasia 32 very rare (1%) HP:0002089
22 increased variability in muscle fiber diameter 32 very rare (1%) HP:0003557
23 secundum atrial septal defect 32 very rare (1%) HP:0001684
24 patent foramen ovale 32 very rare (1%) HP:0001655
25 pectus excavatum 32 HP:0000767
26 osteopenia 32 HP:0000938
27 flexion contracture 32 HP:0001371
28 decreased muscle mass 32 HP:0003199
29 generalized hypotonia 32 HP:0001290
30 spinal muscular atrophy 32 HP:0007269
31 respiratory distress 32 HP:0002098
32 congenital hip dislocation 32 HP:0001374
33 arachnodactyly 32 HP:0001166
34 generalized amyotrophy 32 HP:0003700
35 peripheral axonal neuropathy 32 HP:0003477
36 hypertrichosis 32 HP:0000998
37 rocker bottom foot 32 HP:0001838
38 axonal loss 32 HP:0003447
39 generalized edema 32 HP:0007430
40 degeneration of anterior horn cells 32 HP:0002398
41 diaphragmatic eventration 32 HP:0009110
42 lack of spontaneous play 32 HP:0000721
43 acute infantile spinal muscular atrophy 32 HP:0007280

Symptoms via clinical synopsis from OMIM:

57
Neuro:
acute infantile spinal muscular atrophy

Skel:
congenital bone fractures

Clinical features from OMIM:

271225 616866

Drugs & Therapeutics for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Genetic Tests for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Genetic tests related to Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures:

# Genetic test Affiliating Genes
1 Spinal Muscular Atrophy with Congenital Bone Fractures 1 29 TRIP4
2 Spinal Muscular Atrophy Type 1 with Congenital Bone Fractures 29

Anatomical Context for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

MalaCards organs/tissues related to Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures:

41
Bone, Heart

Publications for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Articles related to Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures:

# Title Authors PMID Year
1
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures. 71
26924529 2016
2
Severe spinal muscular atrophy variant associated with congenital bone fractures. 8
12503654 2002
3
Spinal muscular atrophy with congenital fractures: postmortem analysis. 8
12503655 2002
4
Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance. 8
11826032 2002
5
Spinal muscular atrophy variant with congenital fractures. 8
10528250 1999
6
Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome. 8
1865475 1991

Variations for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

ClinVar genetic disease variations for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TRIP4 NM_016213.5(TRIP4): c.760C> T (p.Arg254Ter) single nucleotide variant Pathogenic rs869312827 15:64698591-64698591 15:64406392-64406392
2 TRIP4 NM_016213.5(TRIP4): c.832C> T (p.Arg278Ter) single nucleotide variant Pathogenic rs761865592 15:64701816-64701816 15:64409617-64409617

Expression for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures.

Pathways for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

GO Terms for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Sources for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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